PMID- 36271235
OWN - NLM
STAT- MEDLINE
DCOM- 20221025
LR  - 20230117
IS  - 2045-2322 (Electronic)
IS  - 2045-2322 (Linking)
VI  - 12
IP  - 1
DP  - 2022 Oct 21
TI  - Visual function and retinal changes after voretigene neparvovec treatment in 
      children with biallelic RPE65-related inherited retinal dystrophy.
PG  - 17637
LID - 10.1038/s41598-022-22180-6 [doi]
LID - 17637
AB  - To report quantitative retinal changes assessed by spectral-domain optical 
      coherence tomography (SD-OCT) in children treated with voretigene neparvovec (VN) 
      at a single center in Italy. Retrospective review of six consecutive pediatric 
      patients with biallelic RPE65-related dystrophy treated bilaterally with VN. 
      SD-OCT scans were analyzed to extract Early Treatment Diabetic Retinopathy Study 
      (ETDRS) thickness maps of the whole retina and the outer nuclear layer (ONL). 
      Changes in visual function were assessed by best-corrected visual acuity (BCVA) 
      and retinal morphology at Days 30/45 and 180. BCVA significantly improved at Day 
      30/45 and 6 months (both P < 0.001). Central foveal retinal thickness and central 
      foveal ONL thickness tended to increase (6.4 +/- 19.2 microm; P = 0.080 and 
      3.42 +/- 7.68 microm; P = 0.091, respectively). ONL thickness of the internal 
      ETDRS-ring significantly increased at day 30/45 (4.7 +/- 8.4 microm; P < 0.001) and day 
      180 (5.0 +/- 5.7 microm; P = 0.009). Intra-operative foveal detachment was not 
      associated with a higher function gain in terms of BCVA, but with a mild thinning 
      of foveal ONL after treatment. The improvement of BCVA and thickening of the ONL 
      layer suggest that improvement of visual acuity could be related to partial 
      recovery of retinal morphology in the perifoveal ring.
CI  - (c) 2022. The Author(s).
FAU - Testa, Francesco
AU  - Testa F
AD  - Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental 
      Sciences, University of Campania Luigi Vanvitelli, Via S. Pansini 5, Building 15, 
      80131, Naples, Italy.
FAU - Melillo, Paolo
AU  - Melillo P
AD  - Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental 
      Sciences, University of Campania Luigi Vanvitelli, Via S. Pansini 5, Building 15, 
      80131, Naples, Italy.
FAU - Di Iorio, Valentina
AU  - Di Iorio V
AD  - Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental 
      Sciences, University of Campania Luigi Vanvitelli, Via S. Pansini 5, Building 15, 
      80131, Naples, Italy. valentina.diiorio@unicampania.it.
FAU - Iovino, Claudio
AU  - Iovino C
AD  - Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental 
      Sciences, University of Campania Luigi Vanvitelli, Via S. Pansini 5, Building 15, 
      80131, Naples, Italy.
FAU - Farinaro, Francesco
AU  - Farinaro F
AD  - Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental 
      Sciences, University of Campania Luigi Vanvitelli, Via S. Pansini 5, Building 15, 
      80131, Naples, Italy.
FAU - Karali, Marianthi
AU  - Karali M
AD  - Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental 
      Sciences, University of Campania Luigi Vanvitelli, Via S. Pansini 5, Building 15, 
      80131, Naples, Italy.
AD  - Medical Genetics, Department of Precision Medicine, University of Campania Luigi 
      Vanvitelli, via Luigi De Crecchio 7, 80138, Naples, Italy.
FAU - Banfi, Sandro
AU  - Banfi S
AD  - Medical Genetics, Department of Precision Medicine, University of Campania Luigi 
      Vanvitelli, via Luigi De Crecchio 7, 80138, Naples, Italy.
AD  - Telethon Institute of Genetics and Medicine, via Campi Flegrei 34, 80078, 
      Pozzuoli, Italy.
FAU - Rossi, Settimio
AU  - Rossi S
AD  - Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental 
      Sciences, University of Campania Luigi Vanvitelli, Via S. Pansini 5, Building 15, 
      80131, Naples, Italy.
FAU - Della Corte, Michele
AU  - Della Corte M
AD  - Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental 
      Sciences, University of Campania Luigi Vanvitelli, Via S. Pansini 5, Building 15, 
      80131, Naples, Italy.
FAU - Simonelli, Francesca
AU  - Simonelli F
AD  - Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental 
      Sciences, University of Campania Luigi Vanvitelli, Via S. Pansini 5, Building 15, 
      80131, Naples, Italy.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20221021
PL  - England
TA  - Sci Rep
JT  - Scientific reports
JID - 101563288
SB  - IM
MH  - Humans
MH  - Child
MH  - *Retina/diagnostic imaging
MH  - Fovea Centralis/diagnostic imaging
MH  - Tomography, Optical Coherence/methods
MH  - Visual Acuity
MH  - *Retinal Dystrophies/genetics/therapy
MH  - Retrospective Studies
PMC - PMC9586929
COIS- F.T., P.M., S.B., and M.D.C. have received funding from Novartis. S.R. has 
      received funding from Novartis and Bayer. F.S. has received funding from Biogen, 
      Novartis, MA Provider, AIM Group, Uvet, SIFI, Bayer, Santhera Pharmaceuticals, 
      Alia Therapeutics, Allergan, and 3P Solution. The other authors declare no 
      conflict of interest.
EDAT- 2022/10/23 06:00
MHDA- 2022/10/26 06:00
PMCR- 2022/10/21
CRDT- 2022/10/22 00:04
PHST- 2022/06/15 00:00 [received]
PHST- 2022/10/11 00:00 [accepted]
PHST- 2022/10/22 00:04 [entrez]
PHST- 2022/10/23 06:00 [pubmed]
PHST- 2022/10/26 06:00 [medline]
PHST- 2022/10/21 00:00 [pmc-release]
AID - 10.1038/s41598-022-22180-6 [pii]
AID - 22180 [pii]
AID - 10.1038/s41598-022-22180-6 [doi]
PST - epublish
SO  - Sci Rep. 2022 Oct 21;12(1):17637. doi: 10.1038/s41598-022-22180-6.